A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome

We report on a Saudi infant with Holt-Oram syndrome caused by a de novo missense mutation of the TBX5 gene. The mutation (Thr72Lys) is novel and has not been previously reported. The cardiac and limb defects in our patient were both severe, and the infant also had micrognathia and cleft palate. Prev...

Descripción completa

Detalles Bibliográficos
Autores principales: Al-Qattan, Mohammad M., Al-Shaar, Hussam Abou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Saudi Medical Journal 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549596/
https://www.ncbi.nlm.nih.gov/pubmed/26219450
http://dx.doi.org/10.15537/smj.2015.8.11891
_version_ 1782387332818665472
author Al-Qattan, Mohammad M.
Al-Shaar, Hussam Abou
author_facet Al-Qattan, Mohammad M.
Al-Shaar, Hussam Abou
author_sort Al-Qattan, Mohammad M.
collection PubMed
description We report on a Saudi infant with Holt-Oram syndrome caused by a de novo missense mutation of the TBX5 gene. The mutation (Thr72Lys) is novel and has not been previously reported. The cardiac and limb defects in our patient were both severe, and the infant also had micrognathia and cleft palate. Previously reported cases of the Holt-Oram syndrome caused by missense mutations were reviewed and their phenotypes were compared with the phenotype of our patient.
format Online
Article
Text
id pubmed-4549596
institution National Center for Biotechnology Information
language English
publishDate 2015
publisher Saudi Medical Journal
record_format MEDLINE/PubMed
spelling pubmed-45495962015-08-31 A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome Al-Qattan, Mohammad M. Al-Shaar, Hussam Abou Saudi Med J Case Report We report on a Saudi infant with Holt-Oram syndrome caused by a de novo missense mutation of the TBX5 gene. The mutation (Thr72Lys) is novel and has not been previously reported. The cardiac and limb defects in our patient were both severe, and the infant also had micrognathia and cleft palate. Previously reported cases of the Holt-Oram syndrome caused by missense mutations were reviewed and their phenotypes were compared with the phenotype of our patient. Saudi Medical Journal 2015-08 /pmc/articles/PMC4549596/ /pubmed/26219450 http://dx.doi.org/10.15537/smj.2015.8.11891 Text en Copyright: © Saudi Medical Journal https://creativecommons.org/licenses/by-nc-sa/3.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Al-Qattan, Mohammad M.
Al-Shaar, Hussam Abou
A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome
title A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome
title_full A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome
title_fullStr A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome
title_full_unstemmed A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome
title_short A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome
title_sort novel missense mutation in the tbx5 gene in a saudi infant with holt-oram syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549596/
https://www.ncbi.nlm.nih.gov/pubmed/26219450
http://dx.doi.org/10.15537/smj.2015.8.11891
work_keys_str_mv AT alqattanmohammadm anovelmissensemutationinthetbx5geneinasaudiinfantwithholtoramsyndrome
AT alshaarhussamabou anovelmissensemutationinthetbx5geneinasaudiinfantwithholtoramsyndrome
AT alqattanmohammadm novelmissensemutationinthetbx5geneinasaudiinfantwithholtoramsyndrome
AT alshaarhussamabou novelmissensemutationinthetbx5geneinasaudiinfantwithholtoramsyndrome

Ejemplares similares